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Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers.

作者信息

Zugazagoitia Jon, Pérez-Segura Pedro, Manzano Arancha, Blanco Ignacio, Vega Ana, Custodio Ana, Teulé Alex, Fachal Laura, Martínez Beatriz, González-Sarmiento Rogelio, Cruz-Hernández Juan Jesús, Chirivella Isabel, Garcés Vicente, Garre Pilar, Romero Atocha, Caldés Trinidad, Díaz-Rubio Eduardo, de la Hoya Miguel

机构信息

Genetic Counseling Unit, Department of Clinical Oncology, Hospital Clínico San Carlos, Madrid, Spain.

出版信息

Breast Cancer Res Treat. 2014 Nov;148(2):415-21. doi: 10.1007/s10549-014-3167-4. Epub 2014 Oct 24.


DOI:10.1007/s10549-014-3167-4
PMID:25342642
Abstract

Early-onset diagnosis is an eligibility criterion for BRCA1 and BRCA2 (BRCA) testing in sporadic breast cancer patients. Limited family structure has been proposed as a predictor of BRCA mutation status in this group of patients. An overwhelming amount of data supports a strong association between BRCA1 mutations and triple-negative breast cancer (TNBC). Here, we analyze the feasibility of using limited family structure and TNBC as predictors of BRCA mutation status in early-onset breast cancer patients attending genetic counseling units. We have conducted the study in a cohort of sporadic early-onset (≤35 years) breast cancer patients (N = 341) previously selected for BRCA genetic testing in Academic Hereditary Cancer Clinics from Spain. A retrospective review of medical records available at the time of risk assessment allowed us classifying patients according to family structure and TNBC. In addition, BRCAPRO score was calculated for all patients. Association between categorical variables was investigated using the Fisher's exact test. Binary Logistic Regression Analysis was used for multivariate analysis. Limited family structure (OR 3.61, p = 0.013) and TNBC (OR 3.14, p = 0.013) were independent predictors of BRCA mutation status. Mutation prevalence in the subgroup of patients with at least one positive predictor was 14%, whereas it dropped to 3% in non-TNBCs with adequate family history (OR 5.31, 95% CI 1.38-23.89, p = 0.006). BRCAPRO correctly discerned between limited and adequate family structures. Limited family structure and TNBC are feasible predictors of BRCA mutation status in sporadic early-onset (≤35 years) breast cancer patients attending genetic counseling units. The low prevalence of mutations observed in non-TNBCs with adequate family structure suggests that this subgroup of patients might be excluded from genetic testing.

摘要

相似文献

[1]
Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers.

Breast Cancer Res Treat. 2014-11

[2]
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Ann Surg Oncol. 2013-8-22

[3]
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[4]
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[5]
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[6]
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[7]
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[8]
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[9]
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[10]
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引用本文的文献

[1]
mutation spectrum in Chinese early-onset breast cancer.

Transl Cancer Res. 2019-4

[2]
Breast MRI texture analysis for prediction of BRCA-associated genetic risk.

BMC Med Imaging. 2020-7-29

[3]
Molecular Classification and Future Therapeutic Challenges of Triple-negative Breast Cancer.

In Vivo. 2020

[4]
A systematic review of the international prevalence of mutation in breast cancer.

Clin Epidemiol. 2019-7-11

[5]
Association Between Status and Triple-Negative Breast Cancer: A Meta-Analysis.

Front Pharmacol. 2018-8-21

[6]
Frequency of breast cancer with hereditary risk features in Spain: Analysis from GEICAM "El Álamo III" retrospective study.

PLoS One. 2017-10-6

[7]
Current advances in biomarkers for targeted therapy in triple-negative breast cancer.

Breast Cancer (Dove Med Press). 2016-10-6

[8]
Efficacy of Neoadjuvant Carboplatin plus Docetaxel in Triple-Negative Breast Cancer: Combined Analysis of Two Cohorts.

Clin Cancer Res. 2017-2-1

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